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Updated: May 15, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case
Meena A Kannan1, S Challa, Andoni J Urtizberea
1Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India. meenaak@hotmail.com
Abstract:
Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world. We report the first genetically proven case of DMRV from India in a 23-year-old male with gradual onset, progressive distal weakness of both lower limbs with features of inflammation in muscle biopsy.
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